Phenotype #0000242277

Individual ID 00265769
Associated disease MYOP
Diagnosis/Initial myopathy
Diagnosis/Definite -
Phenotype details 4y-proximal muscle weakness; slowly progressive proximal weakness; calf hypertrophy; atrophy of shoulder girdle; CK 56 U/L; EMG not myopathic; 13y-biopsy quadriceps; severe fatty replacement; increased number of internalized nuclei in the remaining muscle fibers; 19y-FVC 0.80; 15y-ECG normal; fatigue
Inheritance Familial, autosomal recessive
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-11-24 18:30:17 +01:00 (CET)
Date last edited N/A

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